title: Mutation screening of HSF4 in 150 age-related cataract patients.
abstract: OBJECTIVE
  Heat shock transcription factor 4 (HSF4) regulates the expression of several heat shock protein (HSP) genes. HSPs are one of the major components responsible for lens protein organization. Recently, we found that mutations of HSF4 result in hereditary cataract. In this study, we explore the role of HSF4 in the development of age-related cataract.
  
  
  METHODS
  We screened sequence variants of HSF4 in age-related cataract patients and the natural population from Shanghai, China.
  
  
  RESULTS
  In individuals of natural populations, we detected no single nucleotide polymorphism (SNP) with a frequency higher than 5% in a complete coding region or in their exon-intron boundaries. In 150 age-related cataract patients, we identified seven sequence changes. We found an intronic G-->A transition (c.1020-25G>A) in one patient, a missense mutation (c.1078A>G) in exon 4 in two patients, a silent mutation (c.1223 C>T) in exon 5 in two patients, an intronic C-->T transition (c.1256+25C>T) in one patient, and a silent mutation in exon 6 (c.1286 C>T) in one patient. These five variants were not represented in 220 control individuals. We also identified an intronic C-->T transition (c.1019+9C>T) and a missense mutation (c.1243G>A) in exon 3 in three patients, but these two variants were also present in 100 control subjects.
  
  
  CONCLUSIONS
  We identified five new HSF4 mutations in 150 age-related cataract patients, enlarging the spectrum of HSF4 mutations in cataract patients. This result indicates that HSF4 mutations account for only a small fraction of age-related cataracts.
authors.affiliation: Institute of Health Science, Shanghai Institutes for Biological Sciences of CAS and Ruijin Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China.
authors.forename: Yuefeng
authors.initials: Y
authors.lastname: Shi
authors.forename: Xiaohe
authors.initials: X
authors.lastname: Shi
authors.forename: Yiping
authors.initials: Y
authors.lastname: Jin
authors.forename: Aizhu
authors.initials: A
authors.lastname: Miao
authors.forename: Lei
authors.initials: L
authors.lastname: Bu
authors.forename: Jianyong
authors.initials: J
authors.lastname: He
authors.forename: Haisong
authors.initials: H
authors.lastname: Jiang
authors.forename: Yi
authors.initials: Y
authors.lastname: Lu
authors.forename: Xiangyin
authors.initials: X
authors.lastname: Kong
authors.forename: Landian
authors.initials: L
authors.lastname: Hu
mesh_terms: D000375:Aging / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002386:Cataract / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D005820:Genetic Testing; D005973:Glutamine; D000076249:Heat Shock Transcription Factors; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C102948:HSF4 protein, human; D000076249:Heat Shock Transcription Factors; D014157:Transcription Factors; D005973:Glutamine